Aliases for CCDC185 Gene

Aliases for CCDC185 Gene

  • Coiled-Coil Domain Containing 185 2 3 5
  • Coiled-Coil Domain-Containing Protein 185 3 4
  • C1orf65 3 4
  • Chromosome 1 Open Reading Frame 65 2
  • FLJ35728 2
  • CCDC185 5

External Ids for CCDC185 Gene

Previous HGNC Symbols for CCDC185 Gene

  • C1orf65

Summaries for CCDC185 Gene

GeneCards Summary for CCDC185 Gene

CCDC185 (Coiled-Coil Domain Containing 185) is a Protein Coding gene. Diseases associated with CCDC185 include Dystonia 23 and Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete.

Additional gene information for CCDC185 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC185 Gene

Genomics for CCDC185 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC185 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J223393 Promoter 0.6 Ensembl 250.7 0.0 -14 1.2 ELF1 EZH2 ZNF687 ZFX CCDC185 LOC105373025 lnc-SUSD4-1 SUSD4
GH01J223402 Enhancer 1 Ensembl ENCODE 0.4 +9.4 9438 1.7 CEBPB EP300 RFX5 ZNF316 FOSL1 PRDM6 JUND NFE2 ATF1 CUX1 NVL ENSG00000272750 CICP5 CICP13 CCDC185 MN309174-028 MN309174-029 CAPN8
GH01J223411 Enhancer 0.5 Ensembl ENCODE 0.4 +18.1 18112 1.1 SPI1 FOS SUSD4 MN309174-028 CCDC185 MN309174-029 CAPN8
GH01J223421 Enhancer 0.5 Ensembl 0.3 +28.2 28186 0.8 ZNF316 ZBTB48 ZFX MAFK YY2 PRDM10 EMSY SUSD4 MN309174-028 MN309174-029 CCDC185 HSALNG0010889 CAPN8
GH01J223429 Enhancer 0.5 Ensembl ENCODE 0.3 +36.6 36586 2 CTCF ZNF404 SUSD4 ENSG00000272750 MN309174-029 MN309174-028 CCDC185 HSALNG0010889 CAPN8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC185 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC185

Genomic Locations for CCDC185 Gene

Latest Assembly
chr1:223,393,415-223,395,465
(GRCh38/hg38)
Size:
2,051 bases
Orientation:
Plus strand

Previous Assembly
chr1:223,566,757-223,568,807
(GRCh37/hg19 by Entrez Gene)
Size:
2,051 bases
Orientation:
Plus strand

chr1:223,566,715-223,568,812
(GRCh37/hg19 by Ensembl)
Size:
2,098 bases
Orientation:
Plus strand

Genomic View for CCDC185 Gene

Genes around CCDC185 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC185 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC185 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC185 Gene

Proteins for CCDC185 Gene

  • Protein details for CCDC185 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N715-CC185_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 185
    Protein Accession:
    Q8N715
    Secondary Accessions:
    • Q8N746
    • Q8NA93

    Protein attributes for CCDC185 Gene

    Size:
    623 amino acids
    Molecular mass:
    72349 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC185 Gene

Post-translational modifications for CCDC185 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC185 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC185 Gene

Domains & Families for CCDC185 Gene

Gene Families for CCDC185 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC185 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with CCDC185: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC185 Gene

Function for CCDC185 Gene

Phenotypes From GWAS Catalog for CCDC185 Gene

Gene Ontology (GO) - Molecular Function for CCDC185 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CCDC185: view
genes like me logo Genes that share phenotypes with CCDC185: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC185

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC185 Gene

Localization for CCDC185 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC185 gene
Compartment Confidence
nucleus 2
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CCDC185 Gene

Pathways & Interactions for CCDC185 Gene

PathCards logo

SuperPathways for CCDC185 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC185 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC185 Gene

Drugs & Compounds for CCDC185 Gene

No Compound Related Data Available

Transcripts for CCDC185 Gene

mRNA/cDNA for CCDC185 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC185

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC185 Gene

No ASD Table

Relevant External Links for CCDC185 Gene

GeneLoc Exon Structure for
CCDC185

Expression for CCDC185 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC185 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for CCDC185 Gene

This gene is overexpressed in Frontal cortex (29.7), Fetal gut (15.9), and Tlymphocyte (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC185 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC185

genes like me logo Genes that share expression patterns with CCDC185: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC185 Gene

Orthologs for CCDC185 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC185 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1H1orf65 30
  • 98.98 (n)
C1orf65 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C16H1orf65 30 31
  • 74.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC289334 30
  • 71.57 (n)
Mouse
(Mus musculus)
Mammalia 4922505E12Rik 30 31
  • 71.36 (n)
OneToOne
Ccdc185 17
Oppossum
(Monodelphis domestica)
Mammalia C1orf65 31
  • 49 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C1orf65 31
  • 48 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C1orf65 31
  • 40 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C1orf65 31
  • 36 (a)
OneToOne
Species where no ortholog for CCDC185 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CCDC185 Gene

ENSEMBL:
Gene Tree for CCDC185 (if available)
TreeFam:
Gene Tree for CCDC185 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC185: view image

Paralogs for CCDC185 Gene

No data available for Paralogs for CCDC185 Gene

Variants for CCDC185 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC185 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10907376 - p.Gly329Asp
rs17852896 - p.Arg380Leu
rs6682552 - p.Arg331Trp
rs6689850 - p.Val195Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC185 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCDC185 Gene

Variant ID Type Subtype PubMed ID
nsv4687 CNV deletion 18451855
nsv517708 CNV loss 19592680
nsv832670 CNV loss 17160897

Variation tolerance for CCDC185 Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.64; 72.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC185 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC185

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC185 Gene

Disorders for CCDC185 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC185 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC185

genes like me logo Genes that share disorders with CCDC185: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC185 Gene

Publications for CCDC185 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CCDC185 Gene

Sources for CCDC185 Gene